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A new syndrome with ocular, skeletal and renal involvement.

作者信息

Cirillo Silengo M, Lopez Bell G, Biagioli M, Guala A, Porcellini G, Franceschini P

出版信息

Pediatr Radiol. 1987;17(3):238-41. doi: 10.1007/BF02388169.

DOI:10.1007/BF02388169
PMID:3588071
Abstract

A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.

摘要

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1
A new syndrome with ocular, skeletal and renal involvement.
Pediatr Radiol. 1987;17(3):238-41. doi: 10.1007/BF02388169.
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引用本文的文献

1
A new syndrome with cerebro-oculo-skeletal-renal involvement.
Pediatr Radiol. 1990;20(8):612-4. doi: 10.1007/BF02129073.

本文引用的文献

1
FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS.伴有色素性视网膜炎的家族性肾病；一种成人新型眼肾综合征。
Am J Med. 1965 Jul;39:58-69. doi: 10.1016/0002-9343(65)90245-7.
2
Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.伴有视网膜色素变性的青少年家族性肾病。一种新的眼肾营养不良症。
Am J Ophthalmol. 1961 Nov;52:625-33. doi: 10.1016/0002-9394(61)90147-7.
3
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.色素性视网膜炎、干骺端软骨发育不良和短指畸形：一对患病的兄妹。
J Med Genet. 1981 Feb;18(1):46-9. doi: 10.1136/jmg.18.1.46.
4
Hereditary renal-retinal dysplasia.
Ann Intern Med. 1969 Apr;70(4):735-44. doi: 10.7326/0003-4819-70-4-735.
5
Hereditary nephritis, retinitis pigmentosa and chromosomal abnormalities.遗传性肾炎、色素性视网膜炎和染色体异常。
Am J Med. 1968 Aug;45(2):312-21. doi: 10.1016/0002-9343(68)90048-x.
6
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.
Am J Med. 1970 Oct;49(4):556-62. doi: 10.1016/s0002-9343(70)80051-1.
7
Hereditary brachydactyly associated with hypertension.与高血压相关的遗传性短指畸形。
J Med Genet. 1973 Sep;10(3):253-9. doi: 10.1136/jmg.10.3.253.
8
[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].
Helv Paediatr Acta. 1977 Nov;32(4-5):375-82.